ClinVar Miner

Variants studied for bone benign neoplasm

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
11 10 14 9 2 4 47

Gene and significance breakdown #

Total genes and gene combinations: 9
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NSDHL 10 5 8 9 2 4 35
CTNNB1, LOC126806658 0 4 0 0 0 0 4
TSC1 0 0 2 0 0 0 2
APC 1 0 0 0 0 0 1
ERCC2 0 1 0 0 0 0 1
LOC130002133, PTCH1 0 0 1 0 0 0 1
NF1 0 0 1 0 0 0 1
PTCH1 0 0 1 0 0 0 1
SUFU 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 0 0 6 9 0 0 15
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 6 0 0 0 8
Genetic Services Laboratory, University of Chicago 4 3 0 0 0 0 7
OMIM 6 0 0 0 0 0 6
GeneReviews 0 0 0 0 0 4 4
Database of Curated Mutations (DoCM) 0 4 0 0 0 0 4
Baylor Genetics 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.